Pediatric Hypertrophic Cardiomyopathy Panel
| Test Information | |
|---|---|
| Test Name | Pediatric Hypertrophic Cardiomyopathy Panel |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Cardiogenetics |
| Subcategory | Hypertrophic Cardiomyopathy |
| Gene/Platform/Region List | ABCC9, ACTC1, ACTN2, AGL, ALPK3, BRAF, CACNA1C, CBL, CSRP3, DES, FHL1, FHOD3, FLNC, GAA, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NF1, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS, RRAS2, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPRED2, TAB2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Oligonucleotide based target capture, sanger sequencing for any clinically significant regions that are not captured and/or have insufficient coverage. |
| Diseases/Conditions | Hypertrophic Cardiomyopathy |